CAKUT
Gene: UMODComment on list classification: Not CAKUT associated.Created: 25 Apr 2016, 1:05 p.m.
Comment on list classification: Demoted from green due to comment from a second reviewer.Created: 22 Apr 2016, 12:30 p.m.
In humans UMOD mutations are generally associated with medullary cystic kidneys. In the late stage of disease these may appear small and contain cysts but these are more correctly thought of as acquired problems rather than being present at birth.Created: 22 Apr 2016, 11:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotype is associated with missense mutations/in-frame insert/deletion predicted to cause protein miss-folding.
This gene is not associated with CAKUT pe se - typically cysts are late feature.Created: 16 Oct 2015, 3:16 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Medullary cystic kidney disease type 2; Glomerulocystic kidney disease with hyperuricemia; Juvenile Hyperuricemic nephropathy
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Mode of inheritance for UMOD was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Model of inheritance for gene UMOD was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene UMOD was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene UMOD was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene UMOD was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene UMOD was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene UMOD was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
UMOD was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Radboud University Medical Center, Nijmegen
UMOD was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Emory Genetics Laboratory
UMOD was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Illumina TruGenome Clinical Sequencing Services